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206 related items for PubMed ID: 32185686

  • 1. A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
    Concolino P.
    Mol Biol Rep; 2020 Apr; 47(4):3049-3052. PubMed ID: 32185686
    [Abstract] [Full Text] [Related]

  • 2. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE, Moreira AC, Antonini SR, de Castro M.
    Gene; 2013 Sep 10; 526(2):239-45. PubMed ID: 23570880
    [Abstract] [Full Text] [Related]

  • 3. Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
    Leccese A, Longo V, Dimatteo C, De Girolamo G, Trunzo R, D'Andrea G, Bafunno V, Margaglione M, Santacroce R.
    Clin Chim Acta; 2014 Nov 01; 437():48-51. PubMed ID: 25025300
    [Abstract] [Full Text] [Related]

  • 4. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
    Khattab A, Yuen T, Al-Malki S, Yau M, Kazmi D, Sun L, Harbison M, Haider S, Zaidi M, New MI.
    Ann N Y Acad Sci; 2016 Jan 01; 1364(1):5-10. PubMed ID: 26291314
    [Abstract] [Full Text] [Related]

  • 5. The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
    Fanis P, Skordis N, Toumba M, Picolos M, Tanteles GA, Neocleous V, Phylactou LA.
    Front Endocrinol (Lausanne); 2023 Jan 01; 14():1156616. PubMed ID: 37324257
    [Abstract] [Full Text] [Related]

  • 6. A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
    Concolino P, Mello E, Minucci A, Giardina E, Zuppi C, Toscano V, Capoluongo E.
    BMC Med Genet; 2009 Jul 22; 10():72. PubMed ID: 19624807
    [Abstract] [Full Text] [Related]

  • 7. Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
    Milacic I, Barac M, Milenkovic T, Ugrin M, Klaassen K, Skakic A, Jesic M, Joksic I, Mitrovic K, Todorovic S, Vujovic S, Pavlovic S, Stojiljkovic M.
    J Endocrinol Invest; 2015 Nov 22; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 8. Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia.
    Lee HH.
    Clin Chim Acta; 2013 Mar 15; 418():37-44. PubMed ID: 23313747
    [Abstract] [Full Text] [Related]

  • 9. Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
    Baradaran-Heravi A, Vakili R, Robins T, Carlsson J, Ghaemi N, A'rabi A, Abbaszadegan MR.
    Clin Endocrinol (Oxf); 2007 Sep 15; 67(3):335-41. PubMed ID: 17573904
    [Abstract] [Full Text] [Related]

  • 10. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
    Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI.
    J Steroid Biochem Mol Biol; 2017 Jan 15; 165(Pt A):51-56. PubMed ID: 27041116
    [Abstract] [Full Text] [Related]

  • 11. A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.
    Menabò S, Balsamo A, Baldazzi L, Barbaro M, Nicoletti A, Conti V, Pirazzoli P, Wedell A, Cicognani A.
    J Endocrinol Invest; 2012 Mar 15; 35(3):298-305. PubMed ID: 21521936
    [Abstract] [Full Text] [Related]

  • 12. Comparing the Southern blot method and polymerase chain reaction product analysis for chimeric RCCX detection in CYP21A2 deficiency.
    Lee HH, Lee YJ, Chao MC.
    Anal Biochem; 2010 Apr 15; 399(2):293-8. PubMed ID: 19961824
    [Abstract] [Full Text] [Related]

  • 13. Genotyping of CYP21A2 for congenital adrenal hyperplasia screening using allele-specific primer extension followed by bead array hybridization.
    Oh Y, Park SW, Chun SM, Lim N, Ahn KS, Ka JO, Jin DK, Han BD.
    Mol Diagn Ther; 2009 Dec 01; 13(6):397-405. PubMed ID: 19925038
    [Abstract] [Full Text] [Related]

  • 14. Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia.
    Concolino P, Vendittelli F, Mello E, Minucci A, Carrozza C, Rossodivita A, Giardina B, Zuppi C, Capoluongo E.
    Clin Endocrinol (Oxf); 2009 Oct 01; 71(4):470-6. PubMed ID: 19170707
    [Abstract] [Full Text] [Related]

  • 15. The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.
    Livadas S, Dracopoulou M, Dastamani A, Sertedaki A, Maniati-Christidi M, Magiakou AM, Kanaka-Gantenbein C, Chrousos GP, Dacou-Voutetakis C.
    Clin Endocrinol (Oxf); 2015 Apr 01; 82(4):543-9. PubMed ID: 25041270
    [Abstract] [Full Text] [Related]

  • 16. Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.
    Kleinle S, Lang R, Fischer GF, Vierhapper H, Waldhauser F, Födinger M, Baumgartner-Parzer SM.
    J Clin Endocrinol Metab; 2009 Oct 01; 94(10):3954-8. PubMed ID: 19773403
    [Abstract] [Full Text] [Related]

  • 17. Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
    Marino R, Ramirez P, Galeano J, Perez Garrido N, Rocco C, Ciaccio M, Warman DM, Guercio G, Chaler E, Maceiras M, Bergadá I, Gryngarten M, Balbi V, Pardes E, Rivarola MA, Belgorosky A.
    Clin Endocrinol (Oxf); 2011 Oct 01; 75(4):427-35. PubMed ID: 21609351
    [Abstract] [Full Text] [Related]

  • 18. Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.
    Ma D, Chen Y, Sun Y, Yang B, Cheng J, Huang M, Zhang J, Zhang J, Hu P, Lin Y, Jiang T, Xu Z.
    Clin Biochem; 2014 Apr 01; 47(6):455-63. PubMed ID: 24503005
    [Abstract] [Full Text] [Related]

  • 19. Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
    Chen W, Xu Z, Sullivan A, Finkielstain GP, Van Ryzin C, Merke DP, McDonnell NB.
    Clin Chem; 2012 Feb 01; 58(2):421-30. PubMed ID: 22156666
    [Abstract] [Full Text] [Related]

  • 20. CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assay.
    Hong G, Park HD, Choi R, Jin DK, Kim JH, Ki CS, Lee SY, Song J, Kim JW.
    Ann Lab Med; 2015 Sep 01; 35(5):535-9. PubMed ID: 26206692
    [Abstract] [Full Text] [Related]

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